المؤلفون: Statland, Jeffrey, Campbell, Craig, Desai, Urvi, Karam, Chafic, Díaz-Manera, Jordi, Guptill, Jeffrey, Korngut, Lawrence, Genge, Angela, Tawil, Rabi, Elman, Lauren, Joyce, Nanette, Wagner, Kathryn, Manousakis, Georgios, Amato, Anthony, Butterfield, Russell, Shieh, Perry, Wicklund, Matthew, Gamez, Josep, Bodkin, Cynthia, Pestronk, Alan, Weihl, Conrad, Vilchez-Padilla, Juan, Johnson, Nicholas, Mathews, Katherine, Miller, Barry, Leneus, Ashley, Fowler, Marcie, van de Rijn, Marc, Attie, Kenneth

المصدر: Muscle and Nerve. 66(1)

مصطلحات موضوعية: FSHD, controlled trial, facioscapulohumeral muscular dystrophy, randomized, Adolescent, Adult, Cytomegalovirus Infections, Humans, Magnetic Resonance Imaging, Muscle Contraction, Muscle, Skeletal, Muscular Dystrophy, Facioscapulohumeral

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/4rb044kbTest

المؤلفون: Chau, Jonathan, Kong, Xiangduo, Nguyen, Nam, Williams, Katherine, Ball, Miya, Tawil, Rabi, Kiyono, Tohru, Mortazavi, Ali, Yokomori, Kyoko

المصدر: Human Mutation. 42(4)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Rare Diseases, Muscular Dystrophy, Intellectual and Developmental Disabilities (IDD), Brain Disorders, Biotechnology, Facioscapulohumeral Muscular Dystrophy, Cell Nucleus, Gene Expression, Gene Expression Regulation, Homeodomain Proteins, Humans, Muscle Fibers, Skeletal, Muscle, Skeletal, Muscular Dystrophy, Facioscapulohumeral, DUX4, FSHD, KDM4E, LEUTX, RNAScope, skeletal myotubes, Clinical Sciences, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/2z3611rpTest

المؤلفون: Heier, Christopher, Zhang, Aiping, Nguyen, Nhu, Tully, Christopher, Panigrahi, Aswini, Gordish-Dressman, Heather, Pandey, Sachchida, Guglieri, Michela, Ryan, Monique, Clemens, Paula, Thangarajh, Mathula, Webster, Richard, Smith, Edward, Connolly, Anne, Karachunski, Peter, Tulinius, Mar, Harper, Amy, Mah, Jean, Fiorillo, Alyson, Chen, Yi-Wen, McDonald, Craig

المصدر: Journal of Personalized Medicine. 10(4)

مصطلحات موضوعية: FSHD, biomarkers, calprotectin, dystrophy, miRNA, muscle, proteomics

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/6zd1v840Test

المؤلفون: Matthew V Cowley, Johanna Pruller, Massimo Ganassi, Peter S Zammit, Christopher RS Banerji

المصدر: eLife, Vol 12 (2023)

مصطلحات موضوعية: facioscapulohumeral muscular dystrophy, DUX4, stochastic gene expression, FSHD, muscle, cellular automaton, Medicine, Science, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: https://elifesciences.org/articles/88345Test; https://doaj.org/toc/2050-084XTest

الوصول الحر: https://doaj.org/article/dd33421a7a064060bd67e70bcede832cTest

المؤلفون: Kelly Murphy, Aiping Zhang, Adam J. Bittel, Yi-Wen Chen

المصدر: Journal of Personalized Medicine; Volume 13; Issue 7; Pages: 1040

مصطلحات موضوعية: facioscapulohumeral, muscular, dystrophy, FSHD, FLExDUX4, DUX4, muscle, TDP-43

وصف الملف: application/pdf

العلاقة: Mechanisms of Diseases; https://dx.doi.org/10.3390/jpm13071040Test

الإتاحة: https://doi.org/10.3390/jpm13071040Test

المؤلفون: Virginie Mariot, Romain Joubert, Anne-Charlotte Marsollier, Christophe Hourdé, Thomas Voit, Julie Dumonceaux

المصدر: Molecular Therapy: Nucleic Acids, Vol 22, Iss , Pp 1191-1199 (2020)

مصطلحات موضوعية: FSHD, Facioscapulohumeral dystrophy, DUX4, Therapy, Muscle, Decoy, Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2162253120303401Test; https://doaj.org/toc/2162-2531Test

الوصول الحر: https://doaj.org/article/f7811ad39e1b43bc95cb69615872dc4eTest

المؤلفون: Mariot, Virginie, Dumonceaux, Julie

المصدر: Frontiers in Genome Editing , 4 , Article 937879. (2022)

مصطلحات موضوعية: CRISPR, DUX4, FSHD, TALEN, cas9, gene editing, muscle, therapy

وصف الملف: application/pdf

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10160176/1/Mariot_Gene%20Editing%20to%20Tackle%20Facioscapulohumeral%20Muscular%20Dystrophy_VoR.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10160176Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10160176/1/Mariot_Gene%20Editing%20to%20Tackle%20Facioscapulohumeral%20Muscular%20Dystrophy_VoR.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10160176Test/

المؤلفون: Han, Jay J, Kurillo, Gregorij, Abresch, Richard T, Bie, Evan, Nicorici, Alina, Bajcsy, Ruzena

المصدر: Muscle & Nerve. 51(2)

مصطلحات موضوعية: Neurosciences, Muscular Dystrophy, Intellectual and Developmental Disabilities (IDD), Brain Disorders, Facioscapulohumeral Muscular Dystrophy, Rare Diseases, Adult, Aged, Case-Control Studies, Cohort Studies, Female, Functional Laterality, Humans, Male, Middle Aged, Movement, Muscle, Skeletal, Muscular Dystrophy, Facioscapulohumeral, Range of Motion, Articular, Remote Sensing Technology, Upper Extremity, function, FSHD, kinect reachable workspace, upper extremity, Medical and Health Sciences, Neurology & Neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/5dr9x7t2Test

المؤلفون: Schätzl, Teresa, Kaiser, Lars, Deigner, Hans-Peter

المصدر: http://lobid.org/resources/99370675069506441Test#!, 16(1):129.

مصطلحات موضوعية: Clinical genetics and genomics, Downstream signalling, Epigenetic, Humans [MeSH], Facioscapulohumeral muscular dystrophy (FSHD), Homeodomain Proteins/genetics [MeSH], Muscular Dystrophy, Facioscapulohumeral/genetics [MeSH], Double Homeobox 4 (, Transcriptional Activation [MeSH], Signal Transduction [MeSH], Review, Treatment strategies, Muscle, Skeletal/metabolism [MeSH]

العلاقة: https://repository.publisso.de/resource/frl:6464751Test; https://doi.org/10.1186/s13023-021-01760-1Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7953708Test/

الإتاحة: https://doi.org/10.1186/s13023-021-01760-1Test
https://repository.publisso.de/resource/frl:6464751Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7953708Test/

المؤلفون: Chen, Kelly Murphy, Aiping Zhang, Adam J. Bittel, Yi-Wen

المصدر: Journal of Personalized Medicine; Volume 13; Issue 7; Pages: 1040

مصطلحات موضوعية: facioscapulohumeral, muscular, dystrophy, FSHD, FLExDUX4, DUX4, muscle, TDP-43

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=multidiscipl::c78f6f1ad6102c4432bd5de9a2d12891Test